相关数据集
ATM signaling pathway
Ataxia-telangiectasia (A-T) is a highly pleiotropic, autosomal recessive disease that leads to multisystem defects and has an intricate cellular phenotype, all linked to the functional inactivation of
wikipathways.github.io100
A novel loss-of-function KCNB1 gene variant in a twin with global developmental delay and seizures
Human voltage-gated potassium (Kv) channels are expressed by a 40-member family of genes essential for normal electrical activity and with numerous associations and linkages to excitability disorder
DataCite Commons2025-04-01 更新30
Sequencing results of SLC19A3 in dogs with AHE.
Sequencing results of SLC19A3 in dogs with AHE.
Figshare2015-12-02 更新30
GNAQ pathways in port-wine stain
Port-wine stains are caused by somatic, mosaic mutations in the GNAQ gene. The pathogenic variant is usually a p.R183Q (c.G548A) mutation in guanine nucleotide binding protein alpha subunit q (GNAQ),
wikipathways.github.io70
Data from: Developmental loss of neurofibromin across distributed neuronal circuits drives excessive grooming in Drosophila
Neurofibromatosis type 1 is a monogenetic disorder that predisposes individuals to tumor formation and cognitive and behavioral symptoms. The neuronal circuitry and developmental events underlying
DataCite Commons2025-04-01 更新30
